Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | PKHD1 |
| Gene Name: | PKHD1 |
| Protein Full Name: | Fibrocystin precursor |
| Alias: | ARPKD; FCYT; fibrocystin; polycystic kidney and hepatic disease 1; polycystic kidney and hepatic disease 1 (autosomal recessive); polyductin; TIG multiple domains 1; TIGM1; tigmin |
| Mass (Da): | 446702 |
| Number AA: | 4074 |
| UniProt ID: | Q86WI1 |
| Locus ID: | 5314 |
| COSMIC ID: | PKHD1 |
| Gene location on chromosome: | 6p12.2 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 20311 |
| Percent of cancer specimens with mutations: | 4 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with several point mutations, but no complex, insertion or deletion mutants. |
| Normal role description: | PKHD1 has a single transmembrane-spanning domain and several Ig-like plexin-transcription-factor domains. Some alternatively spliced isoforms of the protein are truncated and lack the TM domain and may thus be found in a secreted form. Mutations in the gene are the cause of autosomal recessive polycystic kidney disease. |
| Commentary on involvement of protein in cancer: | 2/223 breast-, 3/3 laryngeal- (mis-sense), and 1/1 pharyngeal (mis-sense & silent) tumour samples were also mutated |